Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene.

Conclusion: Variants found in exon 5 of the HMGA2 gene have not been described and have an uncertain significance in the genesis of FML. Further studies, including a more significant number of affected individuals and functional analysis of the novel variants of HGMA2 gene, should be undertaken to better understand its biological role in FML. PMID: 32021365 [PubMed]
Source: Clinical, Cosmetic and Investigational Dermatology - Category: Dermatology Tags: Clin Cosmet Investig Dermatol Source Type: research

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Authors: Ludvigsson J Abstract The negative consequencies of diabetes treatment are traditionally regarded as caused by a disastrous treatment rather than adverse events of the insulin preparations. However, hypoglycemia, changes at the injection site (lipatrophy, lipoma), insulin allergy, obesity and increased risk of certain forms of cancer can easily be regarded as adverse events of the drug, and needle-phobia, psychological problems, increased risk of suicide are adverse events related to insulin and its administration. Also macroangiopathy and even microangiopathy to some extent can be regarded as adverse even...
Source: Pediatric Endocrinology Reviews - Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Abstract16 ‐year‐old boy with severe obesity presented to the pediatric rheumatology clinic with a 1.5‐year history of right knee swelling. Laboratory findings were unremarkable other than mildly elevated inflammatory markers. Lyme screen was negative. A previous knee MRI reported a large joint effusion with synovitis and few punctate foci of low signal intensity throughout the synovium, concerning for pigmented villondodular synovitis.
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: Clinical Image Source Type: research
Abstract Syndromes with localized accumulation of subcutaneous fatty tissue belong to a group of genetically and phenotypically heterogeneous disorders. These diseases may show some common signs, such as nodular fat, symmetrical fat masses, obesity, fatigue, lymphedema and symmetrical lipomas (painful or otherwise). Other symptoms may be specific for the different clinical entities, enabling correct differential diagnosis. Disorders belonging to this spectrum are lipedema, generalized diffuse or nodular forms of Dercum disease, localized nodular Dercum disease and multiple symmetric lipomatosis. Here we summarize ...
Source: Acta Bio-Medica : Atenei Parmensis - Category: General Medicine Authors: Tags: Acta Biomed Source Type: research
We report a case of large volume mediastinal and pleural lipomatosis causing significant dyspnoea in an obese individual. This is a rare complication of obesity and should be considered in obese patients when other causes of dyspnoea have been excluded. Dyspnoea in obese patients can be multifactorial and complex. Mediastinal and pleural lipomatosis can be associated with obesity and is usually considered asymptomatic and benign. We report an obese 39 ‐year‐old man who presented with progressive dyspnoea, where in addition to obstructive sleep apnoea and obesity hypoventilation syndrome, was found to have massive media...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
We describe a morbidly obese patient with progressive dyspnea who got diagnosed endoscopically and is scheduled for surgical resection for a large benign mediastinal lipoma.
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
Madelung's disease is characterized by the manifestation of multiple ectopic lipomas, usually found in the cervical ‐thoracic region, however, clinical manifestation may vary among patients. It has been postulated that lipomas associated with Madelung's disease are linked to brown adipose tissue (BAT) due to the presence of uncoupling protein 1 (UCP1). Therefore, we here investigated whether BAT activity is pre sent in a patient with Madelung's disease.18F ‐fluorodeoxyglucose (18F ‐FDG) uptake using PET/CT after a cooling procedure was measured together with body temperature and energy expenditure. Finally, adipose t...
Source: Clinical Obesity - Category: Eating Disorders & Weight Management Authors: Tags: Case Report Source Type: research
This study aimed to describe a case of Madelung's disease with ocular complications and the successful treatment using tarsoconjunctival flap. Patient concerns: A 90-year-old obese male presented with decreased visual acuity accompanied with severe band form punctate epithelial erosions and ciliary injections in both eyes. Exophthalmos and ectropion of the lower eyelids were observed. Diagnoses: Orbital computed tomography revealed a rare entity of Madelung's disease with significant massive deposits of lipomas located symmetrically around the orbit and neck region. Interventions: Bilateral lateral tarsoconjunctiv...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Discussion Neural tube defects are a group of disorders that arise during embryogenesis. They include anenephaly, exencephaly, meningmyelocoeles and encephalocoeles and other malformations including occult spinal dysraphism. Occult spinal dysraphism (OSD) has incomplete fusion of the midline elements of the spine including the bony, neural, and mesenchymal tissues but the abnormalities are covered by skin (ectodermal tissues) and therefore are not obvious. OSD has a higher risk of tethered spinal cord syndrome or other neurological/neurosurgical problems. Normally the caudal end of the spinal cord, the conus medullaris, ha...
Source: - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Described herein is a 67-year-old morbidly obese man who had a lipoma excised from his posterior mitral leaflet after it was found by echocardiogram. Findings in 6 other previously reported cases are reviewed.
Source: The American Journal of Cardiology - Category: Cardiology Authors: Source Type: research
Conclusion This case report presents an effective treatment option for patients in need of bariatric procedure and gastric lipoma resection. This case also highlights the importance of through preoperative and intraoperative assessment for all bariatric patients.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
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